| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Amelogenesis imperfecta type IG (FAM20A) | gingival hyperplasia and dental abnormalities | Autosomal Recessive | 17q24.2 | Duplication | FAM20A | 174-175dup29 | Frame shift mutation & PTC | 0/Cabral et al., 2013 | |
| Amelogenesis Imperfecta | Amelogenesis imperfecta, type IG | Autosomal Recessive | 17q24.2 | Duplication | FAM20A | c.188dupA | p.(Asp63Glufs*17) | Frameshift | Ullah et al., 2025/2025 |
